| Tbio | Sodium/potassium/calcium exchanger 1 |
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Comments
Property Summary
| NCBI Gene PubMed Count | 14 |
| Grant Count | 21 |
| R01 Count | 14 |
| Funding | $2,338,578 |
| PubMed Score | 57.09 |
| PubTator Score | 36.48 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | -2.058 | 0.000 |
| posterior fossa group A ependymoma | 1.400 | 0.000 |
| glioblastoma | 1.100 | 0.000 |
| medulloblastoma, large-cell | 1.100 | 0.001 |
| lung cancer | -2.100 | 0.000 |
| adult high grade glioma | 1.100 | 0.003 |
| group 4 medulloblastoma | 1.300 | 0.001 |
| non primary Sjogren syndrome sicca | -1.100 | 0.028 |
| subependymal giant cell astrocytoma | 1.285 | 0.026 |
| PMID | Text |
|---|---|
| 25505242 | The interaction of HIV-1 CA with human cellular solute carrier family 24, member 1 protein (SLC24A1) is identified by yeast two-hybrid screen |
| 20850105 | A mutation in SLC24A1 is implicated in autosomal-recessive congenital stationary night blindness. |
| 18976975 | Knockdown of solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells |
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSE 1 - 70 EMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERR 71 - 140 KEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMET 141 - 210 SHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNN 211 - 280 LFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSP 281 - 350 RTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL 351 - 420 SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQI 421 - 490 SEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFR 491 - 560 DVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSK 561 - 630 PGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGA 631 - 700 RAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETE 701 - 770 EKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGE 771 - 840 AKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAI 841 - 910 YLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAA 911 - 980 GTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFL 981 - 1050 MLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV 1051 - 1099 //
| PMID | Year | Title |
|---|---|---|
| 20850105 | 2010 | A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. |
| 20139978 | 2010 | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
| 19690332 | 2009 | Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. |
| 17474147 | 2007 | Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. |
| 16572171 | 2006 | Analysis of the DNA sequence and duplication history of human chromosome 15. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 14770312 | 2004 | The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond. |
| 12693957 | 2003 | Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs. |
| 12600216 | 2003 | Topology of the retinal cone NCKX2 Na/Ca-K exchanger. |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
| More... |
